Canonical Allele Identifier: CA579870302
Gene:

Linked Data

dbSNP Id: rs1485807383
gnomAD v2: 8-5765301-GTAATGA-G
gnomAD v3: 8-5907779-GTAATGA-G
gnomAD v4: 8-5907779-GTAATGA-G
MyVariant Identifiers: chr8:g.5765302_5765307del (hg19) chr8:g.5907780_5907785del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.5907784_5907789del , CM000670.2:g.5907784_5907789del GRCh38
NC_000008.10:g.5765306_5765311del , CM000670.1:g.5765306_5765311del GRCh37
NC_000008.9:g.5752714_5752719del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_941374.1:n.308-8054_308-8049del
XR_941375.1:n.308-8054_308-8049del
XR_941376.1:n.406-8054_406-8049del
XR_941377.1:n.308-8054_308-8049del
XR_941378.1:n.216-8054_216-8049del
XR_001745765.1:n.308-8054_308-8049del
XR_001745766.1:n.406-8054_406-8049del
XR_001745767.1:n.216-8054_216-8049del
XR_001745768.1:n.308-8054_308-8049del
XR_941374.2:n.308-8054_308-8049del
XR_941375.2:n.308-8054_308-8049del
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